Author Topic: Dysautonomia  (Read 7838 times)


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« on: August 09, 2014, 04:35:26 AM »

Dysautonomia can affect digestive, skeletal, respiratory and cardiovascular systems.

Something is wrong. You know you're sick but family, friends and perhaps even physicians disagree. Your eyes may be dry; vision is blurred. You have headaches, dizziness (vertigo), fatigue, excessive thirst (polydipsia), intestinal issues (reflux, nausea, constipation, diarrhea), slow or rapid heartbeat (tachycardia), excessive sweating (hyperhidrosis), perspiration depletion (anhidrosis), nerve pain or numbness (paresthesia or neuropathy), and joint pain (myalgia).

So why might a physician fail to put the debilitating symptoms together and diagnose dysautonomia?

Doctors are trained to first consider obvious, common ailments before delving into the abstruse. Make no mistake; for good reason, dysautonomia is a complex mystery to the average physician. Hence, it is more likely that symptoms will initially be evaluated separately rather than comprehensively.

Why Doctors Assume Mental Illness

If several tests return negative results, a doctor may reluctantly investigate an additional symptom or two. With a body of negative (no tumors) or inconclusive tests, medical doctors begin suspecting a psychological disorder. It's nothing personal but, truthfully, diffused physical symptoms and fatigue do point to depression, Munchausen syndrome, or a psychosomatic manifestation. The neurotransmitters that influence both pain and mood are serotonin and norepinephrine. Dysregulation of these transmitters can therefore cause depressionand pain. The list of symptoms can sound like a resume for hypochondria. The problem is, it also suggests dysautonomia if enough key markers are identified.

Frankly, of the various options, depression is both more common and more easily treated. There is no shame in receiving appropriate talk therapy and/or medication if the root cause of physical symptoms is mental or emotional. There is a danger in ignoring the statistically more probable mental illness in favor of a more rare dysautonomia conclusion. Most doctors prefer to side with the statistics. And generally, this works out well.

Given the limited time for patient evaluations (often less than 10 minutes), a primary care physician may feel it is comforting to reassure a patient that she is "healthy" or "fine" physically if a psychiatric genesis is suspected. Because most symptoms lack obvious external presentations, others may say, "You don't look sick." Indefatigability may be required to convince medical care professionals otherwise, particularly after drugs with their own side affects are introduced. Consider though, that with stress as a trigger and anxiety as a symptom, psychiatric sessions may be appropriate even with a dysautonomia diagnosis.

Compartmentalized Diagnosis

Primary care physicians (PCP) generally take initial complaints seriously and may refer patients to specialists. For example, a patient that complains of dizziness might be tested for vestibular anomalies by an otolaryngologist. Such tests have the goal of ruling out M?ni?re Disease (with a series of hearing tests) to focus on Benign Positional Proximal Vertigo (BPPV). A gastrointerologist performs an endoscopy to identify obstructions or ulcers. After an X-ray and blood test to rule out Rheumatoid Arthritis, the primary care physician or rheumatologist will generally suggest an OTC pain reliever or NSAID to a patient presenting joint pain.

Ruling out one major disease is not the same as diagnosing a cause. It is like someone helping you look for lost car keys without knowing where you've been. The shout: "It's not under the seat cushions" is helpful but doesn't get you on the road.

While one or more specialists are treating the patient, it is easy for the primary physician to conclude that the matter is being resolved. Indeed, as the patient file swells with lab tests and follow-up visits, it appears progress is being made. Meanwhile, months or years can elapse as the patient continues to suffer from the entire body of symptoms that are, perhaps, largely ignored. While various specialists' search for tumors, inflammation, and ulcers appears diligent, the suffering can be originating from a deeper autonomic level.

Between 75 and 80 percent of POTS patients are female and of the menstruating age. Most male patients develop POTS in their early to mid-teens during a growth spurt or following viral or bacterial infection. Some women develop POTS symptoms with pregnancy.

Complexities of Autonomic Disorders

Dysautonomia literally means dysregulation of the autonomic nervous system (ANS). The ANS controls involuntary bodily synergies between the sympathetic and parasympathetic nervous symptoms. Necessary involuntary functions include things like heartbeat, breathing, digestion, and body temperature regulation. Studies have also linked the nervous system to the immune system, suggesting a possible correlation between ANS and autoimmune disorders.

In dysautonomia, the ANS does not respond to stimuli appropriately. Dependent upon the patient, either the parasympathetic or sympathetic nervous system can be hyporesponsive or hyperresponsive, often heightened by physiologic and psychologic stress. In those with mitochondrial dysautonomia, mitochondrial dysfunction is believed to cause the dysautonomia.

Since mitochondria provides a source of energy for cells, fatigue related diseases are common among mitochondrial myopathies. Nerve cells in the brain and muscles require significant energy and are depleted with mitochondrial malfunction. Abnormal regulation of body temperature in mitochondrial disease patients is common, resulting in either a lower or higher baseline body temperature (commonly 96-97 degrees Fahrenheit) or a distinct intolerance to heat or cold.

Pure Autonomic Failure (PAF), also known as Bradbury-Eggleston syndrome oridiopathic orthostatic hypotension, is a form of dysautonomia. It is a degenerative disease of the autonomic nervous system. Symptoms include dizziness and fainting (caused by orthostatic hypotension), visual disturbances and neck pain. Chest pain, fatigue and sexual dysfunction are less common but may also occur. Symptoms worsen when standing.

Multifarious symptoms make dysautonomia difficult to diagnose. There are even variations of the disease. The most bothersome feature can differ from one patient to the next. Or the symptom receiving primary attention may depend upon physician predilection. Specific lab tests can be ordered but dysautonomia must first be suspected so the tests can be specified. Unfortunately, pathologies can sometimes be inconclusive. Therefore, lab results must be corroborated with additional symptoms reported by the patient. This requires the medical care professional to develop confidence in the patient's descriptions.

Within the list below are some symptoms of postural tachycardia syndrome (POTS) with a prevalence of 1/100. One of the more striking physical features in POTS is acrocyanosis with the gross change in extremity skin color (pallor) that can occur with standing. Many patients with POTS have low plasma volumes; deficit of 12.8?2.0% (p<0.001).

Body thermoregulation malfunction, tachycardia, and lacrimation anomalies, are significant features of dysautonomia. Familial Dysautonomia is most aggressive but is uncommon among non-Jewish patients. The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000.

Types of Dysautonomia and Partial List of Secondary Illnesses

Postural Orthostatic Tachycardia Syndrome (POTS)
More common in females 4:1, primary symptom is increased heart rate with fatigue triggered by standing. Acrocyanosis is present in 40-50% of patients, headaches malaise, and cognitive impairment.

Hyperadrenergic POTS
Strong familial link; includes primary symptoms of POTS, along with light sensitivity, stress intolerance, slurred speech, adrenergic urticaria, and medication sensitivity.

Pure Autonomic Failure (PAF)
Bradbury-Eggleston syndrome is a degenerative disorder of autonomic nervous system affecting more middle-age males than females.

Familial Dysautonomia (FD)
Riley-Day syndrome affects development and function of nerves primarily among people of Eastern European Jewish heritage. Lacrimal anomalies (99%), skin blotching (99%), hyperperspiration (99%), absent patellar tendon reflexes, absent fungiform tongue papillae, taste reduction, postural hypotension, GI disorders, acid reflux, bladder dysfunction, temperature dysregulation, recurrent pneumonia, fingernail dystrophy, delayed menarche, irregular menstrual cycles, psychiatric syndromes.

Mitral Valve Prolapse Dysautonomia (MVP)
Barlow syndrome; Systolic click-murmur syndrome; disorder affecting valve separating upper and lower chambers of the heart.

Vasovagal or Neurocardiogenic Syncope(NCS)
Fainting, dizziness

Fatigue and body-wide pain in joints and muscles more common among females 9:1.

Chronic Fatigue Syndrome (CFS)
Prolonged and severe tiredness or weariness not relieved by rest.

Post Traumatic Stress Disorder (PTSD)
Extreme stress experienced by veterans of war or traumatizing event such as rape or assault.

Panic Attacks (Anxiety)
Anxiety disorder in which someone has repeated episodes of intense fear.

Inappropriate Sinus Tachycardia (IST)
Abnormally high resting heart rate that increases with minimal exertion, fatigue, dizziness, paresthesia, pre-syncope, GI disturbance.

Irritable Bowel Syndrome (IBS)
Abdominal pain and cramping, as well as changes in bowel movements.

Type 1 diabetes
Insulin deregulation; autoimmune disorders.

Lyme disease
Generally originating from an infected tick bite.

A multitude of disorders can produce POTS-like symptoms. It is important that physicians attempt to find possible causes of a patient's orthostatic intolerance, as many secondary disorders are treatable. Some entities that can contribute to one's orthostatic intolerance include: adrenal disorders, anemia, autoimmune disorders, cardiac atrophy, cardiac disease, cervical stenosis, chemical exposure, Chiari malformation, diabetes, Ehlers-Danlos Syndrome (EDS), electrical injury, gastric bypass surgery, lipodystrophy, liver disease, mast-cell activation disorders, mitochondrial disease, neuropathy, nitric oxide deficit, norepinephrine transporter deficiency, nutcraker phenomenon, nutritional deficiencies, multiple sclerosis, parasites, Parkinson's, porphyrias, syringomyelia, tumors, thyroid disease and viruses.

Fibromyalgia, affecting about 3% of the population, is most common among women and characterized by chronic, heightened painful response to pressure, debilitating fatigue, sleep disturbance, joint stiffness, difficulty swallowing, bowel and bladder abnormalities, numbness and tingling, cognitive dysfunction, depression and anxiety.

Managing Dysautonomia

Diagnosing dysautonomia is half the battle. How does one cope? For many patients, what's most comforting is recognition that the ailment has a real name and they are not just lazy or imagining ills. Unless a doctor has significant experience treating patients with dysautonomia or mitochondria disorders it is likely that the patient receives, at best, palliative rather than comprehensive care. Dysautonomia specialists, perhaps with extra training in neurophysiology, biophysics, or cardiology, are likely to have greater empathy and more patience in the search for answers. Compassionate realization of patient limitations are considered in the treatment regimen.

In defense of doctors inexperienced with dysautonomia, since there currently is no cure for dysautonomia (though some patients outgrow it), empirical symptom-based treatment offered from the outset can be beneficial. So what's the advantage of a dysautonomia specialist? The difference is that symptoms dismissed by the general practitioner can be properly recognized to effectively monitor overall disease progression or improvement.

A PCP may vaguely recall that unresponsive patellar tendon reflexes is common in someform of dysautonomia (Familial Dysautonomia). If good reflexes are demonstrated, the notion of dysautonomia may be aborted altogether. Similarly, a PCP may be persuaded by the fact that FD is more prevalent among Jews. Though true, these suppositions would not establish a basis for ruling out every form of dysautonomia. Recurrent bronchitis or pneumonia is another key FD symptom to a trained specialist; one that may be dismissed as a seasonal flu symptom by a PCP. A dysautonomia specialist is likely to prescribe different medication or treatment to address symptoms.

Regular exercise is routinely recommended. Patents may have to use discretion in how much physical exertion is practical. Alcohol can exacerbate symptoms. There are various ways of dealing with peripheral neuropathy. Additional dietary restrictions and suggestions are available from the Dysautonomia Information Network or other organizations.


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Re: Dysautonomia
« Reply #1 on: August 09, 2014, 04:46:47 AM »

Symptoms and diagnosis of ME/CFS

The following is provided for your information only. The diagnosis of ME/CFS should be determined only by a suitably qualified medical professional.

Despite the fact that the Department of Health now accepts ME/CFS as a genuine medical condition, diagnosis can still pose a problem because ME/CFS symptoms are similar to those present in a number of other medical conditions. In addition, there are no examination findings which can confirm the diagnosis. This means there has to be a process of elimination (the exclusion of other conditions) before a diagnosis of ME/CFS can be made.

Several different diagnostic criteria have now been published in the UK, USA and Australia. The CDC criteria (reference: Annals of Internal Medicine, 1994, 121, 953-959) are frequently used when selecting ME/CFS patients for research studies.

However, these criteria have a number of defects (e.g. you have to have been ill for at least six months before ME/CFS is confirmed) and anecdotal reports suggest there are a significant minority of people with genuine ME/CFS who do not have a sufficient number of different symptoms to fulfil the strict CDC definition. Such conditions may have a relevance when selecting people for research studies, but delaying or withholding a diagnosis on these grounds is not helpful. It can cause problems with employers, schools, benefit claims etc. It can also affect the individual?s recovery if they are unable take sufficient rest early on and manage their condition sensibly, rather than having to ?soldier on?. It is known that stress exacerbates the condition.

The typical features of ME/CFS

Commonly, a previously fit and active person finds their illness triggered by an infection. Less common triggers include toxins, organophosphate pesticides, vaccinations, major trauma or stress (e.g. a road traffic accident), pregnancy and surgical operations.

In some cases there is no obvious precipitating event and the person reports a gradual decline in health over a period of months or even years.

The predominant symptom of ME/CFS is usually severe fatigue and malaise following mental or physical activity. The full extent of this exhaustion often becomes apparent only 24 to 48 hours after the activity (assuming, of course, the person was not already in a ?recovery period? from a previous activity).

The other main symptoms are:

Muscle symptoms include exercise intolerance and post-exertional malaise (i.e. feeling shattered the day after undue physical activity), pain/myalgia (present in around 75% of people) and fasciculations (visible twitching of the muscles which sometimes includes blepharospasm/eyelid twitching). Brain and Central Nervous System symptoms include cognitive dysfunction (problems with short-term memory, concentration and maintaining attention), clumsiness, disequilibrium likened to ?walking on rubber?, and word finding abilities. Problems with control of the autonomic nervous system results in palpitations, sweating episodes and symptoms associated with low blood pressure/postural hypotension (e.g. fainting). Symptoms which suggest on-going abnormalities in immune system function include sore throats, enlarged glands, joint pains, headaches, problems with temperature control and intermittent flu-like feelings. Other symptoms which frequently occur in ME/CFS include sleep disturbances (often increased requirements at the onset followed by an inability to maintain a full night?s sleep), alcohol intolerance (a very characteristic feature, particularly in the early period of illness) and irritable bowel symptomatology. Some people also develop emotional lability or mood swings and features of clinical depression as time goes on. Besides these more obvious and wide-spread symptoms there are also myriad ?minor? ones. Not everyone experiences all of them and often they are not mentioned when patients describe their illness; however there is often very visible relief when they find others, too, have similar experiences.

ME/CFS symptoms tend to fluctuate in severity throughout the course of a day and people often report that they have both ?good days? and ?bad days?, although the term ?good? is often used in a relative sense. The illness nearly always results in a severe reduction in a person?s ability to cope with all aspects of normal daily living (i.e. social and sporting activities, employment, household tasks). Relapses or exacerbations are often precipitated by infections, excessive physical or mental stress, general anaesthetics and surgical operations, and extremes of temperature.

Conditions which have symptoms in common with ME/CFS

There are a variety of hormonal (e.g. hypothyroidism), rheumatological (e.g. lupus/SLE), neurological (e.g. multiple sclerosis), infective (e.g. Lyme disease and hepatitis B/C virus) and gastrointestinal (e.g. coeliac disease) conditions which can all produce very similar symptoms to those found in ME/CFS. This is why it is so important for doctors to take a detailed clinical history from anyone suspected of having ME/CFS (especially when there are atypical features present) and arrange appropriate investigations if the diagnosis is in doubt.

Tests helpful in making a diagnosis

The main value of blood tests in the assessment of someone with possible ME/CFS is to exclude other common conditions which produce fatigue as a principle symptom. This means the following tests should always be considered before a diagnosis is confirmed; these can be arranged by your GP if she/he is agreeable:

People with ME/CFS do not have anaemia as part of this illness. If the haemoglobin level is reduced, then an alternative explanation should always be pursued.

white cell count
A measurement of the number of cells which fight off infection. This count is often increased during the early stages of an infection but as ME/CFS becomes chronic, the level usually starts to return to normal. Some people with ME/CFS have abnormally shaped white cells (atypical lymphocytes), particularly following glandular fever. A raised level of a type of white cell known as eosinophils can occur with allergies or when infection with toxocara is present (the latter should always be queried when a child has eosinophilia).

ESR or acute phase protein changes (e.g.CRP)
The ESR test is a useful indicator of general health. If raised, this suggests some form of chronic infection or inflammation is present. The vast majority of people with ME/CFS have a normal ESR.

liver, thyroid and kidney function tests
Liver function tests are sometimes abnormal in ME/CFS. This may be due to the precipitating infection causing liver inflammation or the effects of antidepressant drugs. There is also a condition called Gilbert?s disease which seems to be more common in people with ME/CFS (ref: Lancet, 1993, 341, 842 and 1162-1163). If liver tests remain abnormal then further investigation may be warranted. There is no evidence that hormonal disturbances in ME/CFS involve the thyroid gland: the results of thyroid function tests should always be normal.

routine biochemistry (urea, electrolytes, calcium etc.)
results should all be within the normal range. A raised level of blood calcium could be due to sarcoidosis. A lowered level may indicate osteomalacia (a bone disease causing fatigue and bone pain). Research from Australia indicates that the total amount of body potassium may be lowered in ME/CFS (ref: Medical Journal of Australia, 1996, 164, 384). A raised level of potassium can occur in Addison?s disease.

creatine kinaseurine tests for sugar/proteinhormone levels
In some cases, investigations should also include checking female hormone levels (serum oestradiol) and adrenal gland function.

Other blood tests which could be considered will depend on specific symptoms. For example, if irritable bowel symptoms are experienced then checking for adult-onset coeliac disease would be worthwhile, particularly if the symptoms appear to be relieved by a wheat-free diet.

A number of research studies have now reported on characteristic abnormalities in certain hormones (e.g. cortisol, prolactin and arginine vasopressin) which come under the control of a part of the brain known as the hypothalamus. However, these results are not consistently abnormal in all ME/CFS patients. Neither are the tests readily available outside research units.

Blood flow scans of the brain (SPECT scans) have produced interesting results (i.e. brain stem hypoperfusion) which appear to be almost unique to ME/CFS, but these are not widely available. Blood flow abnormalities in the brain stem will need to be confirmed by other research groups before they can be considered as a useful diagnostic aid.

A brief discussion of diagnostic criteria

The clinical features of ME were first clearly described by the late Dr. Melvin Ramsay MA MD (a physician at the Royal Free Hospital in London during an epidemic outbreak in 1955, and The ME Association?s first President). Since then, in the light of there being no diagnostic tests, there have been several more attempts to define the illness by way of its symptoms, although never with all-round agreement.

In recent years there have been the American Center for Disease Control (CDC) definition, the ?Oxford Criteria? and more recently the ?Canadian Guidelines?. Although the first two criteria tend to be used as a diagnostic aid by many clinicians, they were compiled primarily for researchers to identify particular sets of people for their studies. These earlier definitions (of ?CFS? as opposed to ?ME?) give various physical and neurological symptoms; however, in these definitions, the cardinal features of ?ME? ? the muscle fatigability and pain, and post-exertional malaise ? do not have to be present for such a diagnosis. This suggests that nowadays, not everyone with a diagnosis of ?Chronic Fatigue Syndrome? necessarily has the disease ?ME? as described by Dr Ramsay. It also seems that CFS can cover a spectrum of fatigue-prominent diseases, possibly including illness based in depression, stress or ?burn-out?. However the Canadian Guidelines were developed with clinicians more in mind.

Two other features of ME are first the fluctuation of symptoms from day to day, or within the day; and secondly the tendency for the condition to persist for several years.

Dr Ramsay?s description included the following:

The onset of the disease may be sudden and without apparent cause? but usually there is a history of infection of the upper respiratory tract or, occasionally, the gastrointestinal tract with nausea and/or vomiting. Instead of an uneventful recovery, the patient is dogged by persistent and profound fatigue accompanied by a medley of symptoms such as headache, giddiness, muscle pain, cramps or twitchings, muscle tenderness and weakness, paraesthesiae, frequency of micturition, blurred vision and/or diplopia, hyperacusis, tinnitus and a general feeling of ?feeling awful?? the phenomenon of muscle fatigability is the dominant and most persistent feature of the disease and in my opinion a diagnosis should never be made without it. ?If muscle power is found to be satisfactory, a re-examination should be made after exercise; a walk of half a mile is sufficient, as very few ME cases can manage more? Restoration of muscle power can take three to five days or even longer.
From Post-viral Fatigue Syndrome by A. Melvin Ramsay MA MD.

The CDC criteria are broadly as follows:

Clinically evaluated, unexplained persistent or relapsing chronic fatigue that is of new or definite onset (i.e., not lifelong), is not the result of ongoing exertion, is not substantially alleviated by rest, and results in substantial reduction in previous levels of occupational, educational, social, or personal activities. The concurrent occurrence of four or more of the following symptoms: substantial impairment in short-term memory or concentration; sore throat; tender lymph nodes; muscle pain; multi-joint pain without swelling or redness; headaches of a new type, pattern, or severity; unrefreshing sleep; and post-exertional malaise lasting more than 24 hours. These symptoms must have persisted or recurred during 6 or more consecutive months of illness and must not have predated the fatigue.

(Note that although post-exertional malaise is listed, it does not have to be present for this diagnosis to be given.)

The CDC?s own website gives further details of the CDC definition.

The Oxford criteria identify two broad syndromes (remember these definitions are primarily for research purposes):

1. Chronic Fatigue Syndrome

fatigue is the principal symptom: it is severe, disabling and affects physical and mental functioning; it should have been present for a minimum of 6 months during which it was present for more than 50% of the time. other symptoms may be present: particularly myalgia, mood swings and sleep disturbances. definite onset of symptoms, not life-long. exceptions: patients with established medical conditions known to produce chronic fatigue; also patients with a current diagnosis of schizophrenia, manic depressive illness, substance abuse, eating disorder or proven organic brain disease.

2. Post-infectious Fatigue Syndrome (PIFS)

A sub-type of CFS which either follows an infection or is associated with a current infection (although whether such associated infection is of aetiological significance (i.e. whether it is the cause of the symptoms) is a topic for research).To meet the research criteria for PIFS patients must:i. fulfil the criteria for CFS as defined above (i.e. the Oxford definition)ii. should also fulfil the following additional criteria: (a) There is definite evidence of infection at onset or presentation (a patient?s self-report is unlikely to be sufficiently reliable). (b) the syndrome is present for a minimum of 6 months after onset of infection. (c) the infection has been corroborated by laboratory evidence.

The Canadian guidelines

The new Canadian Clinical Case Definition was written by U.S. and Canadian ME/CFS researchers.

In contrast to the 1994 CDC criteria, which make ?fatigue? a compulsory symptom but downplay and make optional post-exertional sickness and other cardinal symptoms, the Canadian clinical case definition specifically selects patients whose condition gets worse with exercise. The clinical definition makes it clear that in order to meet the diagnostic criteria, the patient must become symptomatically ill after exercise, and must also have neurological, neurocognitive, neuroendocrine, dysautonomic (for example, orthostatic intolerance), and immune manifestations. So symptoms other than fatigue, must be present for a patient to meet the diagnostic criteria.

This case definition helps to distinguish ME/CFS patients from chronic fatigue patients, depressed patients, somatization, fibromyalgia, and other diseases with which ME/CFS has been confused, including those that improve with exercise. The Canadian definition specifically states that patients ?become worse after exercise rather than better.? The new case definition, much of which is backed by research and hard science, is a strong counterstatement to the view held by many psychologists and psychiatrists.

Further information

Several books on the subject of ME/CFS are available from the ME Association.

In particular there is a very useful booklet called ?ME/CFS/PVFS ? An Exploration of the Key Clinical Issues? which is a booklet prepared for health professionals by Dr. Charles Shepherd MB BS and Dr. Abhit Chaudhuri DM MD MRCP and which is available from the ME Association.


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Re: Dysautonomia
« Reply #2 on: October 06, 2020, 03:38:00 PM »


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Re: Dysautonomia
« Reply #4 on: May 04, 2023, 09:54:11 AM »
Sexual dysfunction in POTS patients. Help POTS research by participating!  Dr. Svetlana Blitshteyn is recruiting now for a study on sexual dysfunction in POTS patients. To participate: